Canonical Allele Identifier: CA377115433

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121934C>T (hg19) ; chr10:g.71362177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362177C>T , CM000672.2:g.71362177C>T	GRCh38
NC_000010.10:g.73121934C>T , CM000672.1:g.73121934C>T	GRCh37
NC_000010.9:g.72791940C>T	NCBI36
NG_017066.1:g.47925C>T
NG_017066.2:g.47919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2473C>T
ENST00000373189.6:c.997C>T MANE Select	ENSP00000362285.5:p.Leu333Phe
ENST00000479577.2:c.763C>T	ENSP00000493995.1:p.Leu255Phe
ENST00000642198.1:c.*569C>T	ENSP00000494827.1:n.*569C>T
ENST00000642772.1:c.*94+5934C>T	ENSP00000495041.1:n.*94+5934C>T
ENST00000643042.1:c.618C>T	ENSP00000496674.1:n.618C>T
ENST00000643619.1:c.*580C>T	ENSP00000494378.1:n.*580C>T
ENST00000643752.1:c.*323C>T	ENSP00000495000.1:n.*323C>T
ENST00000644088.1:c.*318C>T	ENSP00000494066.1:n.*318C>T
ENST00000644591.1:c.*323C>T	ENSP00000496664.1:n.*323C>T
ENST00000644895.1:c.*99+5934C>T	ENSP00000493872.1:n.*99+5934C>T
ENST00000645345.1:c.*569C>T	ENSP00000495859.1:n.*569C>T
ENST00000647524.1:c.*580C>T	ENSP00000495077.1:n.*580C>T
ENST00000373189.5:c.997C>T	ENSP00000362285.5:p.Leu333Phe
ENST00000469204.1:n.494C>T
NM_001174098.1:c.*226C>T	NP_001167569.1:n.*226C>T
NM_018344.5:c.997C>T	NP_060814.4:p.Leu333Phe
NR_033413.1:n.971C>T
NR_033414.1:n.744C>T
XM_006717910.2:c.763C>T	XP_006717973.1:p.Leu255Phe
NM_001363518.1:c.763C>T	NP_001350447.1:p.Leu255Phe
XM_017016377.2:c.559C>T	XP_016871866.1:p.Leu187Phe
XM_017016378.2:c.379C>T	XP_016871867.1:p.Leu127Phe
NM_018344.6:c.997C>T MANE Select	NP_060814.4:p.Leu333Phe
NM_001174098.2:c.*226C>T	NP_001167569.1:n.*226C>T
NM_001363518.2:c.763C>T	NP_001350447.1:p.Leu255Phe
NR_033413.2:n.965C>T
NR_033414.2:n.738C>T